Hypertrophic Cardiomyopathy: Signs and Diagnosis | Johns Hopkins Aramco Healthcare
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World-Class Care, Close to Home: How JHAH is Confronting the World’s Most Commonly Inherited Heart Condition

One in every 200 people may be living with hypertrophic cardiomyopathy – most without knowing it. Dr. Hani Ammar of Johns Hopkins Aramco Healthcare (JHAH) explains what the condition is, why early diagnosis matters and how JHAH, in collaboration with Johns Hopkins Medicine, offers world-class care to patients and their families – close to home.

Imagine a heart condition common enough to affect as many as one in every 200 people, but quiet enough that most of those living with it have no idea. Hypertrophic cardiomyopathy, or HCM, is the world’s most common inherited heart disease. To the public, it is best known for its most tragic face: sudden cardiac arrest in seemingly healthy young athletes.

But that visibility is misleading. HCM affects people of every age, background and activity level. For most, it develops silently, with symptoms so mild they are easy to dismiss. That is exactly why awareness and early diagnosis are so important.

‘Hypertrophic’ means abnormally thickened, and ‘cardiomyopathy’ means a disease of the heart muscle. HCM causes the walls of the heart – particularly the septum, the central wall separating the heart’s lower chambers – to grow thicker than normal: 1.5 centimeters or more, compared with less than 1.0 centimeter in a typical adult heart.

In most patients, the heart still pumps normally, but the thickened muscle can stiffen and become prone to abnormal rhythms. HCM may also take an ‘obstructive’ form, wherein the thickened muscle wall narrows the passage through which blood leaves the heart, forcing it to work harder.

However, many people with HCM feel nothing at all for years. When symptoms do appear – breathlessness on the stairs, unusual fatigue, chest tightness during activity, a fluttering or racing heartbeat, dizziness in hot weather – they are easily blamed on stress, age or simply being out of shape. But one symptom should never be ignored: unexplained fainting should always prompt medical evaluation. Sudden, severe chest pain, collapse or breathlessness that does not improve with rest is a medical emergency.


Know the warning signs. Our HCM patient guide covers symptoms, when to seek emergency care, tests, treatment and family screening. Download the HCM patient guide


To reinforce the quality of HCM care for its patients, JHAH brought the expertise home. Dr. Hani Ammar, Cardiology Registrar at JHAH, completed a clinical attachment at JHAH under Dr. Jose Madrazo – Johns Hopkins Medicine faculty visiting JHAH from the Johns Hopkins Hypertrophic Cardiomyopathy Center of Excellence, a program recognized internationally for its comprehensive, team-based approach to the condition.

The collaboration, in Dr. Ammar’s own words, was “instrumental in strengthening HCM care at JHAH” – and he is quick to share the credit: “I would like to express my sincere appreciation to the leadership of JHAH’s Cardiovascular Center of Excellence, for giving me the opportunity to benefit from this valuable experience.”

A particular moment has stayed with him – a patient invited in for an unscheduled consultation with the visiting Johns Hopkins specialist and Dr. Ammar together – and her gratitude at receiving world-class expert opinion without having to travel far from home. It is, on a very human level, the promise that JHAH exists to deliver.

Because its symptoms can resemble many other ailments, HCM is diagnosed through coordinated evaluation rather than any single test. The workup typically begins with an electrocardiogram (ECG) and an echocardiogram – a painless heart ultrasound that measures the exact thickness of the heart muscle and shows how blood flows through its chambers. Depending on what these reveal, the team may add a wearable Holter monitor to record the heart’s rhythm over days, an exercise stress test to assess how the heart behaves under load and a cardiac MRI to map the muscle in fine detail, including any scarring.

Genetic counseling and testing complete the picture – confirming the cause and identifying which family members should be screened. At JHAH, cardiology, imaging and genetics work as one coordinated team – the same integrated model in which Dr. Ammar was trained, and the foundation for a dedicated HCM program that JHAH plans to establish in collaboration with Johns Hopkins Medicine.

A diagnosis of HCM is not a life sentence – it is the start of a management plan that, for most people, is remarkably effective. Daily medications such as beta-blockers or calcium channel blockers control most symptoms by helping the heart relax.

For patients who need more, a new class of drugs designed specifically for HCM – cardiac myosin inhibitors – acts like a dimmer switch on the heart’s overactive muscle fibers, easing obstruction and restoring the ability to stay active. When obstruction is severe, advanced procedures such as surgical septal myectomy or minimally invasive alcohol septal ablation can clear the pathway with substantial, lasting relief.

“This is a chronic condition, and that is precisely why patients and their families benefit so much from highly specialized, lifelong care. It is a partnership – and it works,” Dr. Ammar said.

As HCM is usually genetic and runs in families, a single diagnosis carries information that can protect an entire household. JHAH recommends that all first-degree relatives of an HCM patient – from parents and siblings to children – receive simple screening: a physical exam, an ECG and an echocardiogram. Where a specific gene variant is identified, targeted genetic testing can pinpoint exactly which relatives need regular monitoring and, just as importantly, it can reassure those who did not inherit the variant.

“If people remember one thing about HCM, it should be this: early diagnosis matters – not only for you, but for the people you love. If you or a family member is diagnosed, JHAH will be there to walk with you, every step of the way,” Dr. Ammar said.

Anyone who would like to learn more about hypertrophic cardiomyopathy and heart health is welcome to contact JHAH. And if you or a loved one has been diagnosed with HCM, the JHAH HCM clinic – where Dr. Ammar and his colleagues provide integrated care shaped by training with visiting Johns Hopkins Medicine experts – are here to support you, every step of the way. Current JHAH patients can speak with their care team or book an appointment through MyChart.

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